The annual family conference of the German Association CNM – Together Strong for families with myotubular myopathy and other centronuclear myopathies took place this year from 10 – 12 May in Hohenroda. Below Holger Fischer and Jen Bilbao write about the event.
More than 30 families from Germany, Austria and the Netherlands got together in a little town called Hohenroda in the heart of Germany within beautiful surroundings known as the ‘land of endless horizons’, the Rhön Biosphere Reserve and the Thuringia forest.
This was the fifth time we met since the foundation of our association and we can say that we have become a beautiful family. It was great to see each other again, share experiences, advice and just be there and support each other. It was also gratifying, that many new families found their way to the conference and were warmly welcomed by all members of our association.
Scientific presentations and workshops on daily life
On Saturday morning, there was a good mixture of fascinating scientific presentations on centronuclear and central core myopathies, including very some promising therapies to treat these conditions.
The programme started with a presentation of Dr. Johann Böhm from the Institute for Translation Medicine and Neurogenetic from IGBMC in Strasbourg with the most important insights on the genetic aspects of all CNM. Johann is a very appreciated scientist of our community, who is able to explain the genetics, using everyday simple examples with cartoon characters like The Simpsons.
It was also a pleasure to hear the presentation of Dirk Schmitt, Audentes Therapeutics’ new medical director in Germany. He explained the process between the approval of a medicine by the European medicine Agency and availability for patients in Germany.
Dr. Erwin Hauser, Neuropediatric doctor in Austria took us on this own journey with Central Core Disease – from the unknown disease to his own self-experimentation to find a medicine to improve his condition.
Dr. Nicol Voermans, from the Neuromuscular centre of Radboud University in Nijmegen, Netherlands gave a very attention-grabbing speech about myotubular myopathy in female carriers. It is remarkable, that also women can get moderate to severe symptoms from this condition.
The chief doctor of the company Dynacure, Dr. Chris Freitag gave a talk about the planned clinical trials for the encouraging therapy to treat several centronuclear myopathies by re-adjusting the equilibrium between dynamin and myotubularin.
Finally, Dr. Arlene Wüstner introduced us to her doctoral study about the analysis of development and care of children with myotubular myopathy. For this, she interviewed families with affected children to get information on their daily lives with MTM to provide a first information about individual concepts of therapy and treatment for future families with a child who is diagnosed with MTM. Our association supported Arlene with a grant to finish her work.
General meeting and Election of the management board of our association
Later on, we had the general meeting of our association, where we heard a report on the activities of our association in the last year and also the promising plans for the future, including our goal to have our own research funding scheme running by fall 2019.
In addition, during this meeting, Holger Fischer and Frank Schulte were once more elected by all members of our association as president and treasurer, respectively for the next two years.
Workshops on care and everyday life with CNM
During the afternoon, the family members divided into small groups to discuss about everyday life with CNM. The workshops included the following topics:
- Travel for all: where and how can you best make a barrier-free holiday
- Children with CNM in the day-care centres and school: exchange of experiences
- Independent adult life with CNM: chat on different experiences and advices
- Introduction to Microsoft Teams, the platform used by our association to exchange documents and have telephone conferences.
Moreover, Dr. Andrea Schiffers, paediatrician and psychotherapist in paediatric palliative medicine moderated two workshops, one for parents with children with CNM and the other for parents, which sadly lost a child with CNM.
Children had also a lot of fun during the family conference
While all adults were busy by the presentations and workshops, the children and teens in our association had a lot of fun making scientific experiments, planting sunflowers, playing football and writing letters to their future selves.
Cutting hair for a good cause
Dimitra the grandmother of a child with MTM is a professional hair dresser and had the marvellous idea to offer a haircut for all during the conference in exchange for a donation for our association. Dimitra made a wonderful job making all look beautiful for the conference.
Family trip to Mansbach
On Sunday, there was a trip a historic stud farm close to the conference hotel. Our guided tour took us to different stations, where we learned about the stud farm and its fantastic insights.
We really enjoyed the whole program of the family conference. It is just wonderful to get in touch with families going through the same experiences, the same triumphs and the same fears. We have grown as a big and resilient family, where we are #TogetherStrong!
This conference was of course only made possible by the donations our association received for the conference – thank you to all who have contributed. Apart from money many members of ZNM – Zusammen Stark! spent a lot of their time for the organisation of conference and children’s programme, conference book and the Sunday family trip. Again, we know: we are all #TogetherStrong!
*All photos by Carolin Semmelroth, Fotostudio “Pippi Lotta” PhotoArt
(except the news from the family trip).
For further information about the work of ZNM – zusammenstark! e.v. visit their website below.